Results 121 to 130 of about 5,512,004 (328)

Noninvasive prenatal screening (NIPS) for fetal chromosome abnormalities in a general-risk population: An evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG).

Genetics in Medicine, 2022
J. Dungan, S. Klugman, S. Darilek, J. Malinowski, Yassmine M N Akkari, K. Monaghan, Angelika L Erwin, R. Best   +7 more
semanticscholar   +1 more source

Multidimensional OMICs reveal ARID1A orchestrated control of DNA damage, splicing, and cell cycle in normal‐like and malignant urothelial cells

Molecular Oncology, EarlyView.
Loss of the frequently mutated chromatin remodeler ARID1A, a subunit of the SWI/SNF cBAF complex, results in less open chromatin, alternative splicing, and the failure to stop cells from progressing through the cell cycle after DNA damage in bladder (cancer) cells. Created in BioRender. Epigenetic regulators, such as the SWI/SNF complex, with important
Rebecca M. Schlösser, Florian Krumbach, Eyleen Corrales, Geoffroy Andrieux, Christian Preisinger, Franziska Liss, Alexandra Golzmann, Melanie Boerries, Kerstin Becker, Ruth Knüchel, Stefan Garczyk, Bernhard Lüscher   +11 more
wiley   +1 more source

Application of medical genetics in Turkey

The Turkish Journal of Pediatrics, 2007
Turkey is among the most populous countries of the world, and has a young population structure. The rate of consanguinity has been approximately 20-25% for the last 25 years. Various studies have shown that high consanguinity can be a contributing
Ergül Tunçbilek, Meral Ozgüç
doaj  

Identification of somatic mutation-driven enhancers and their clinical utility in breast cancer

iScience
Summary: Somatic mutations contribute to cancer development by altering the activity of enhancers. In the study, a total of 135 mutation-driven enhancers, which displayed significant chromatin accessibility changes, were identified as candidate risk ...
Hongying Zhao, Ke Feng, Junjie Lei, Yaopeng Shu, Lin Bo, Ying Liu, Lixia Wang, Wangyang Liu, Shangwei Ning, Li Wang   +9 more
doaj   +1 more source

Теоретические и социокультурные предпосылки изучения наследственных заболеваний человека: историческая ретроспектива и современное положение [PDF]

, 2015
Рассмотрены процессы зарождения и становления медицинской генетики на основе анализа когнитивных и социокультурных факторов, оказавших влияние на развитие данной научной области.
Фандо, Р.А.
core  

ShcD adaptor protein drives invasion of triple negative breast cancer cells by aberrant activation of EGFR signaling

Molecular Oncology, EarlyView.
We identified adaptor protein ShcD as upregulated in triple‐negative breast cancer and found its expression to be correlated with reduced patient survival and increased invasion in cell models. Using a proteomic screen, we identified novel ShcD binding partners involved in EGFR signaling pathways.
Hayley R. Lau, Hayley S. Smith, Begüm Alural, Claire E. Martin, Laura A. New, Manali Tilak, Sara L. Banerjee, Hannah N. Robeson, Nicolas Bisson, Anne‐Claude Gingras, Jasmin Lalonde, Nina Jones   +11 more
wiley   +1 more source

Human and medical genetics in Brazil

Genetics and Molecular Biology, 2000
The present paper intends to be a brief historical analysis of the conditions for the development of Human and Medical Genetics in Brazil.
Beiguelman Bernardo
doaj  

Human Genetic Variation: A Flipped Classroom Exercise in Cultural Competency

MedEdPORTAL, 2013
Introduction Our understanding of human genetic variation has deepened through the Human Genome and International HapMap projects, which gave us a high-resolution view of human genetic variation and ancestry.
Shoumita Dasgupta, Katherine Tuttle
doaj   +1 more source

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2021 update: a policy statement of the American College of Medical Genetics and Genomics (ACMG)

Genetics in Medicine, 2021
David T. Miller, Kristy Lee, A. Gordon, L. Amendola, Kathy Adelman, S. Bale, W. Chung, M. Gollob, S. Harrison, G. Herman, R. E. Hershberger, T. Klein, K. Mckelvey, C. Richards, C. Vlangos, D. Stewart, M. Watson, C. Martin   +17 more
semanticscholar   +1 more source

Multi‐omic characterization of consensus molecular subtype 1 (CMS1) colorectal cancer with dampened immune response improves precision medicine

Molecular Oncology, EarlyView.
This study highlights the importance of multi‐omic analyses in characterizing colorectal cancers. Indeed, our analysis revealed a rare CMS1 exhibiting dampened immune activation, including reduced PD‐1 expression, moderate CD8+ T‐cell infiltration, and suppressed JAK/STAT pathway.
Livia Concetti, Manuel Scimeca, Julia Bischof, Jonathan Woodsmith, Massimiliano Agostini, Cristina Fiorani, Yufang Shi, Eleonora Candi, Gerry Melino, Alessandro Mauriello, Giuseppe S. Sica   +10 more
wiley   +1 more source